ClinVar Miner

Submissions for variant NM_003823.4(TNFRSF6B):c.772C>A (p.Arg258Ser)

dbSNP: rs570762078
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001935108 SCV002169389 uncertain significance not provided 2024-10-16 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with serine, which is neutral and polar, at codon 258 of the TNFRSF6B protein (p.Arg258Ser). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with TNFRSF6B-related conditions. ClinVar contains an entry for this variant (Variation ID: 1401467). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Revvity Omics, Revvity RCV001935108 SCV004238067 uncertain significance not provided 2021-09-07 criteria provided, single submitter clinical testing

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